| 1. |
|
|
| 2. |
- Elsik, Christine G., et al.
(författare)
-
The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
-
Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
|
|
| 3. |
- Birney, Ewan, et al.
(författare)
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
-
Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
|
|
| 4. |
- Clark, Andrew G., et al.
(författare)
-
Evolution of genes and genomes on the Drosophila phylogeny
- 2007
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
-
Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
|
|
| 5. |
|
|
| 6. |
- Montanier, Cedric, et al.
(författare)
-
The Active Site of a Carbohydrate Esterase Displays Divergent Catalytic and Noncatalytic Binding Functions
- 2009
-
Ingår i: PLoS Biology. - : Public Library of Science (PLoS). - 1545-7885. ; 7:3, s. 687-697
-
Tidskriftsartikel (refereegranskat)abstract
- Multifunctional proteins, which play a critical role in many biological processes, have typically evolved through the recruitment of different domains that have the required functional diversity. Thus the different activities displayed by these proteins are mediated by spatially distinct domains, consistent with the specific chemical requirements of each activity. Indeed, current evolutionary theory argues that the colocalization of diverse activities within an enzyme is likely to be a rare event, because it would compromise the existing activity of the protein. In contrast to this view, a potential example of multifunctional recruitment into a single protein domain is provided by CtCel5C-CE2, which contains an N-terminal module that displays cellulase activity and a C-terminal module, CtCE2, which exhibits a noncatalytic cellulose-binding function but also shares sequence identity with the CE2 family of esterases. Here we show that, unlike other CE2 members, the CtCE2 domain displays divergent catalytic esterase and noncatalytic carbohydrate binding functions. Intriguingly, these diverse activities are housed within the same site on the protein. Thus, a critical component of the active site of CtCE2, the catalytic Ser-His dyad, in harness with inserted aromatic residues, confers noncatalytic binding to cellulose whilst the active site of the domain retains its esterase activity. CtCE2 catalyses deacetylation of noncellulosic plant structural polysaccharides to deprotect these substrates for attack by other enzymes. Yet it also acts as a cellulose-binding domain, which promotes the activity of the appended cellulase on recalcitrant substrates. The CE2 family encapsulates the requirement for multiple activities by biocatalysts that attack challenging macromolecular substrates, including the grafting of a second, powerful and discrete noncatalytic binding functionality into the active site of an enzyme. This article provides a rare example of "gene sharing,'' where the introduction of a second functionality into the active site of an enzyme does not compromise the original activity of the biocatalyst.
|
|
| 7. |
- Bickerton, A. S. T., et al.
(författare)
-
Adipose tissue fatty acid metabolism in insulin-resistant men
- 2008
-
Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 1432-0428 .- 0012-186X. ; 51:8, s. 1466-1474
-
Tidskriftsartikel (refereegranskat)abstract
- Aims/hypothesis Increased NEFA production and concentrations may underlie insulin resistance. We examined systemic and adipose tissue NEFA metabolism in insulin-resistant overweight men (BM1 25-35 kg/m(2)). Methods In a cohort study we examined NEFA concentrations in men in the upper quartile of fasting insulin (n = 124) and in men with fasting insulin below the median (n 159). In a metabolic study we examined NEFA metabolism in the fasting and postprandial states, in ten insulin-resistant men and ten controls. Results In the cohort study, fasting NEFA concentrations were not significantly different between the two groups (median values: insulin-resistant men, 410 mu mol/l; controls, 445 2 mu mol/l). However, triacylglycerol concentrations differed markedly (1.84 vs 1.18 mmol/l respectively, p<0.001). In the metabolic study, arterial NEFA concentrations again did not differ between groups, whereas triacylglycerol concentrations were significantly higher in insulin-resistant men. Systemic NEFA production and the release of NEFA from subcutaneous adipose tissue, expressed per unit of fat mass, were both reduced in insulin-resistant men compared with controls (fasting values by 32%, p=0.02, and 44%, p=0.04 respectively). 3-Hydroxybutyrate concentrations, an index of hepatic fat oxidation and ketogenesis, were lower (p=0.03). Conclusions/interpretation Adipose tissue NEFA output is not increased (per unit weight of tissue) in insulin resistance. On the contrary, it appears to be suppressed by high fasting insulin concentrations. Alterations in triacylglycerol metabolism are more marked than those in NEFA metabolism. and are indicative of altered metabolic partitioning of fatty acids (decreased oxidation, increased esterification) in the liver.
|
|
| 8. |
- Jallow, Muminatou, et al.
(författare)
-
Genome-wide and fine-resolution association analysis of malaria in West Africa.
- 2009
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; , s. 657-665
-
Tidskriftsartikel (refereegranskat)abstract
- We report a genome-wide association (GWA) study of severe malaria in The Gambia. The initial GWA scan included 2,500 children genotyped on the Affymetrix 500K GeneChip, and a replication study included 3,400 children. We used this to examine the performance of GWA methods in Africa. We found considerable population stratification, and also that signals of association at known malaria resistance loci were greatly attenuated owing to weak linkage disequilibrium (LD). To investigate possible solutions to the problem of low LD, we focused on the HbS locus, sequencing this region of the genome in 62 Gambian individuals and then using these data to conduct multipoint imputation in the GWA samples. This increased the signal of association, from P = 4 x 10(-7) to P = 4 x 10(-14), with the peak of the signal located precisely at the HbS causal variant. Our findings provide proof of principle that fine-resolution multipoint imputation, based on population-specific sequencing data, can substantially boost authentic GWA signals and enable fine mapping of causal variants in African populations.
|
|
| 9. |
- Szatmari, Peter, et al.
(författare)
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328
-
Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
|
|
| 10. |
- Astermark, Jan, et al.
(författare)
-
Arandomized comparison of bypassing agents in hemophilia complicated by an inhibitor: the FEIBA NovoSeven Comparative (FENOC) Study.
- 2009
-
Ingår i: Gematologiâ i Transfuziologiâ. - 0234-5730. ; 54:5, s. 35-35
-
Tidskriftsartikel (refereegranskat)abstract
- Arandomized comparison of bypassing agents in hemophilia complicated by an inhibitor: the FEIBA NovoSeven Comparative (FENOC) Study. J. Astermark(1), Sh. M. Donfield(2), D. M. DiMichele(3), A. Gringeri(4), S. A. Gilbert(2), J. Waters(2), E. Berntorp(1), for the FENOC Study Group. Department for Hematology and Coagulation Disorders, Malmo, University Hospital, Malmo, Sweden(1); Department of Biostatistics, Rho, Chapel Hill, NC2; Department of Pediatrics, Weill Medical College, Cornell University, New York, NY3; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan, Italy(4). The development of inhibitory antibodies to factor VIII is a serious complication of hemophilia. FEIBA (factor VIII inhibitorbypassing activity), an activated prothrombin complex concentrate (aPCC), and NovoSeven, recombinant factor Vila (rFVIIa), are used as hemostatic bypassing agents in treating patients with inhibitors. The FENOC study was designed to test equivalence of the products in the treatment of ankle, knee, and elbow joint bleeding. A prospective, open-label, randomized, crossover, equivalency design was used. The parameters of interest were the percentage of patients who reported efficacy in response to FEIBA and the percentage that reported efficacy in response to NovoSeven. A difference in these percentages of no more than 15% was determined to be a clinically acceptable magnitude for equivalence of the 2 products. The primary outcome was evaluation 6 hours after treatment. Data for 96 bleeding episodes contributed by 48 participants were analyzed. The criterion for declaring the 2 products equivalent at 6 hours was not met; however, the confidence interval of the difference in percentages of efficacy reported for each product only slightly exceeded the 15% boundary (11.4-15.7%); p = 0.059. FEIBA and NovoSeven appear to exhibit a similar effect on joint bleeds, although the efficacy between products is rated differently by a substantial proportion of patients. This trial was registered at www.clinicaltrials.gov.
|
|
| 11. |
- Donfield, S. M., et al.
(författare)
-
Value added: increasing the power to assess treatment outcome in joint haemorrhages
- 2008
-
Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 14:2, s. 276-280
-
Tidskriftsartikel (refereegranskat)abstract
- Subject reports of efficacy of treatment of haemophilia-related joint bleeding are by definition subjective, yet are often the primary outcome in studies comparing therapies. Verbal descriptors such as effective, partially effective, poorly effective, not effective are treated as dichotomous or categorical variables in analyses, lowering the statistical power relative to that which might be achieved with a continuous variable. The aims of this study were to examine reports of pain recorded on a 100-mm visual analogue scale (VAS) during the course of joint bleeding; determine whether pain varied by treatment period among pairs reporting discordant outcomes on a verbal scale (one product effective, the other not effective); test whether the two products under study were equivalent with respect to VAS scores; and evaluate their relationship to verbal reports of efficacy. Data from the international, prospective, randomized, crossover FEIBA NovoSeven Comparative study of two bypassing agents used for treatment of 96 bleeding episodes in 48 participants were examined. VAS scores were associated with verbal descriptors of efficacy at every time point, and were equivalent between treatment periods. There were differences in mean scores at time points at which participants rated one treatment effective, the other not effective. As a continuous variable, the VAS score may have more power than a dichotomous variable and when used with verbal descriptions of efficacy can improve the overall accuracy of assessment. This report highlights an important consideration in the selection of outcome measurement that can be generalized to other haemophilia treatment research.
|
|
| 12. |
|
|
| 13. |
- Hedman, Fredrik, et al.
(författare)
-
Benchmarking of Integrated OGSA-BES with the Grid Middleware
- 2009
-
Ingår i: EURO-PAR 2008 WORKSHOPS - PARALLEL PROCESSING. - Berlin : Springer Berlin/Heidelberg. - 9783642009549 ; , s. 113-122
-
Konferensbidrag (refereegranskat)abstract
- This paper evaluates the performance of the emerging OGF standard OGSA - Basic Execution Service (BES) on three fundamentally different Grid middleware platforms: UNICORE 5/6, Globus Toolkit 4 and gLite. The particular focus within this paper is on the OGSA-BES implementation of UNICORE 6. A comparison is made with baseline measurements, for UNICORE 6 and Globus Toolkit 4, using the legacy job submission interfaces. Our results show that the BES components are comparable in performance to existing legacy interfaces. We also have a strong indication that other factors, attributable to the supporting infrastructure, have a bigger impact on performance than BES components.
|
|
| 14. |
|
|
| 15. |
- Stevens, R., et al.
(författare)
-
Microstructured photonic crystal for single-mode long wavelength VCSELs
- 2008
-
Ingår i: Semiconductor Lasers and Laser Dynamics III. - : SPIE.
-
Konferensbidrag (refereegranskat)abstract
- In this article, we report on long wavelength (1.27 ÎŒm) single-mode micro-structured photonic crystal strained InGaAs quantum wells VCSELs for optical interconnection applications. Single fundamental mode room-temperature continuous-wave lasing operation was demonstrated for devices designed and processed with different two-dimensional etched patterns. The conventional epitaxial structure was grown by Metal-Organic Vapor Phase Epitaxy (MOVPE) and contains fully doped GaAs/AlGaAs DBRs, one oxidation layer and three strained InGaAs quantum wells. The holes were etched half-way through the top-mirror following various designs (triangular and square lattices) and with varying hole's diameters and pitches. We obtained up to 1.7 mW optical output power and more than 30 dB Side-Mode Suppression Ratio (SMSR) at room temperature and in continuous wave operation. Systematic static electrical, optical and spectral characterization was performed on wafer using an automated probe station. Numerical modeling using the MIT Photonic-Bands (MPB [1]) package of the transverse modal behaviors in the photonic crystal was performed using the plane wave method in order to understand the index-guiding effects of the chosen patterns, and to further optimize the design structures for mode selection at the given wavelength.
|
|
| 16. |
- Verhertbruggen, Y, et al.
(författare)
-
Developmental complexity of arabinan polysaccharides and their processing in plant cell walls
- 2009
-
Ingår i: The Plant Journal. - : Wiley-Blackwell. - 0960-7412 .- 1365-313X. ; 59:3
-
Tidskriftsartikel (refereegranskat)abstract
- Plant cell walls are constructed from a diversity of polysaccharide components. Molecular probes directed to structural elements of these polymers are required to assay polysaccharide structures in situ, and to determine polymer roles in the context of cell wall biology. Here, we report on the isolation and the characterization of three rat monoclonal antibodies that are directed to 1,5-linked arabinans and related polymers. LM13, LM16 and LM17, together with LM6, constitute a set of antibodies that can detect differing aspects of arabinan structures within cell walls. Each of these antibodies binds strongly to isolated sugar beet arabinan samples in ELISAs. Competitive-inhibition ELISAs indicate the antibodies bind differentially to arabinans with the binding of LM6 and LM17 being effectively inhibited by short oligoarabinosides. LM13 binds preferentially to longer oligoarabinosides, and its binding is highly sensitive to arabinanase action, indicating the recognition of a longer linearized arabinan epitope. In contrast, the binding of LM16 to branched arabinan and to cell walls is increased by arabinofuranosidase action. The presence of all epitopes can be differentially modulated in vitro using glycoside hydrolase family 43 and family 51 arabinofuranosidases. In addition, the LM16 epitope is sensitive to the action of β-galactosidase. Immunofluorescence microscopy indicates that the antibodies can be used to detect epitopes in cell walls, and that the four antibodies reveal complex patterns of epitope occurrence that vary between organs and species, and relate both to the probable processing of arabinan structural elements and the differing mechanical properties of cell walls.
|
|
| 17. |
- Anderson, D J, et al.
(författare)
-
Enterococcal prosthetic valve infective endocarditis: report of 45 episodes from the International Collaboration on Endocarditis-merged database.
- 2005
-
Ingår i: European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology. - : Springer Science and Business Media LLC. - 0934-9723. ; 24:10, s. 665-70
-
Tidskriftsartikel (refereegranskat)abstract
- Enterococcal prosthetic valve infective endocarditis (PVE) is an incompletely understood disease. In the present study, patients with enterococcal PVE were compared to patients with enterococcal native valve endocarditis (NVE) and other types of PVE to determine differences in basic clinical characteristics and outcomes using a large multicenter, international database of patients with definite endocarditis. Forty-five of 159 (29%) cases of definite enterococcal endocarditis were PVE. Patients with enterococcal PVE were demographically similar to patients with enterococcal NVE but had more intracardiac abscesses (20% vs. 6%; p=0.009), fewer valve vegetations (51% vs. 79%; p<0.001), and fewer cases of new valvular regurgitation (12% vs. 45%; p=0.01). Patients with either enterococcal PVE or NVE were elderly (median age, 73 vs. 69; p=0.06). Rates of in-hospital mortality, surgical intervention, heart failure, peripheral embolization, and stroke were similar in both groups. Patients with enterococcal PVE were also demographically similar to patients with other types of PVE, but mortality may be lower (14% vs. 26%; p=0.08). Notably, 93% of patients with enterococcal PVE came from European centers, as compared with only 79% of patients with enterococcal NVE (p=0.03). Thus, patients with enterococcal PVE have higher rates of myocardial abscess formation and lower rates of new regurgitation compared to patients with enterococcal NVE, but there are no differences between the groups with regard to surgical or mortality rates. In contrast, though patients with enterococcal PVE and patients with other types of PVE share similar characteristics, mortality is higher in the latter group. Importantly, the prevalence of enterococcal PVE was higher in the European centers in this study.
|
|
| 18. |
- Anguera, Ignasi, et al.
(författare)
-
Clinical characteristics and outcome of aortic endocarditis with periannular abscess in the International Collaboration on Endocarditis Merged Database.
- 2005
-
Ingår i: The American journal of cardiology. - : Elsevier BV. - 0002-9149. ; 96:7, s. 976-81
-
Tidskriftsartikel (refereegranskat)abstract
- The aims of this study were to determine the clinical characteristics and outcome of patients who had definite infective endocarditis (IE) complicated by aortic ring abscess formation that was detected with transesophageal echocardiography (TEE) and to determine the prognostic significance of abscess formation in aortic valve IE. Patients who had aortic valve IE were selected from the International Collaboration on Endocarditis Merged Database (ICE-MD) if they underwent TEE. Among 311 patients who had definite aortic valve IE, 67 (22%) had periannular abscesses. They were more likely to have infection in the setting of a prosthetic valve (40% vs 19%, p <0.001) and coagulase-negative staphylococcal IE (18% vs 6%, p < 0.01) and less likely to have streptococcal IE than were patients who did not develop abscess (28% vs 46%, p = 0.01). Systemic embolization, central nervous system events, and heart failure did not differ between those who developed abscess and those who did not, but power was limited. Patients who had abscess were more likely to undergo surgery (84% vs 36%, p <0.001), and their in-hospital mortality rate was higher (19% vs 11%, p = 0.09). Multivariate analysis of prognostic factors of mortality in aortic IE identified age (odds ratio [OR] 1.6, 95% confidence interval [CI]1.2 to 2.1), Staphylococcus aureus (S. aureus) infection (OR 2.4, 95% CI 1.1 to 5.2), and heart failure (OR 2.9, 95% CI 1.4 to 6.1) as variables that were independently associated with increased risk of death. Periannular abscess formation showed a nonsignificant trend toward an increased risk of death (OR 1.9, 95% CI 0.9 to 3.8). Multivariate analysis of prognostic factors of mortality in complicated aortic IE with abscess formation identified S. aureus infection (OR 6.9, 95% CI 1.6 to 29.4) as independently associated with increased risk of death. In conclusion, in the current era of TEE and high use of surgical treatment, periannular abscess formation in aortic valve IE is not an independent risk factor for mortality. S. aureus infection is an independent prognostic factor for mortality in patients who have abscess formation.
|
|
| 19. |
- Astermark, Jan, et al.
(författare)
-
A randomized comparison of bypassing agents in hemophilia complicated by an inhibitor.
- 2007
-
Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 109:Sep 21, s. 546-551
-
Tidskriftsartikel (refereegranskat)abstract
- The development of inhibitory antibodies to factor VIII is a serious complication of hemophilia. FEIBA (factor VIII inhibitor-bypassing activity), an activated prothrombin complex concentrate (aPCC), and NovoSeven, recombinant factor Vila (rFVIIa), are used as hemostatic bypassing agents in treating patients with inhibitors. The FENOC study was designed to test equivalence of the products in the treatment of ankle, knee, and elbow joint bleeding. A prospective, open-label, randomized, crossover, equivalency design was used. The parameters of interest were the percentage of patients who reported efficacy in response to FEIBA and the percentage that reported efficacy in response to NovoSeven. A difference in these percentages of no more than 15% was determined to be a clinically acceptable magnitude for equivalence of the 2 products. The primary outcome was evaluation 6 hours after treatment. Data for 96 bleeding episodes contributed by 48 participants were analyzed. The criterion for declaring the 2 products equivalent at 6 hours was not met; however, the confidence interval of the difference in percentages of efficacy reported for each product only slightly exceeded the 15% boundary (-11.4%-15.7%), P=.059. FEIBA and NovoSeven appear to exhibit a similar effect on joint bleeds, although the efficacy between products is rated differently by a substantial proportion of patients. This trial was registered at www.clinicaltrials.gov as #NCT00166309.
|
|
| 20. |
|
|
| 21. |
- Bénard, A, et al.
(författare)
-
Survey of European programmes for the epidemiological surveillance of congenital toxoplasmosis.
- 2008
-
Ingår i: Euro surveillance : bulletin européen sur les maladies transmissibles = European communicable disease bulletin. - 1560-7917. ; 13:15
-
Tidskriftsartikel (refereegranskat)abstract
- The objective of this investigation was to describe systems for the epidemiological surveillance of congenital toxoplasmosis implemented in European countries. In September 2004, a questionnaire, adapted from the evaluation criteria published by the United States Centers for Disease Control and Prevention, was sent to a panel of national correspondents in 35 countries in the European geographical area with knowledge of the epidemiological surveillance systems implemented in their countries. Where necessary, we updated the information until July 2007. Responses were received from 28 countries. Some 16 countries reported routine surveillance for toxoplasmosis. In 12 countries (Bulgaria, Cyprus, Czech Republic, England and Wales, Estonia, Ireland, Latvia, Lithuania, Malta, Poland, Scotland and Slovakia), surveillance was designed to detect only symptomatic toxoplasmosis, whether congenital or not. Four countries reported surveillance of congenital toxoplasmosis, on a regional basis in Italy and on a national basis in Denmark, France and Germany. In conclusion, epidemiological surveillance of congenital toxoplasmosis needs to be improved in order to determine the true burden of disease and to assess the effectiveness of and the need for existing prevention programmes.
|
|
| 22. |
- Benito, Natividad, et al.
(författare)
-
Health care-associated native valve endocarditis: importance of non-nosocomial acquisition.
- 2009
-
Ingår i: Annals of internal medicine. - : American College of Physicians. - 1539-3704 .- 0003-4819. ; 150:9, s. 586-94
-
Tidskriftsartikel (refereegranskat)abstract
- The clinical profile and outcome of nosocomial and non-nosocomial health care-associated native valve endocarditis are not well defined.To compare the characteristics and outcomes of community-associated and nosocomial and non-nosocomial health care-associated native valve endocarditis.Prospective cohort study.61 hospitals in 28 countries.Patients with definite native valve endocarditis and no history of injection drug use who were enrolled in the ICE-PCS (International Collaboration on Endocarditis Prospective Cohort Study) from June 2000 to August 2005.Clinical and echocardiographic findings, microbiology, complications, and mortality.Health care-associated native valve endocarditis was present in 557 (34%) of 1622 patients (303 with nosocomial infection [54%] and 254 with non-nosocomial infection [46%]). Staphylococcus aureus was the most common cause of health care-associated infection (nosocomial, 47%; non-nosocomial, 42%; P = 0.30); a high proportion of patients had methicillin-resistant S. aureus (nosocomial, 57%; non-nosocomial, 41%; P = 0.014). Fewer patients with health care-associated native valve endocarditis had cardiac surgery (41% vs. 51% of community-associated cases; P < 0.001), but more of the former patients died (25% vs. 13%; P < 0.001). Multivariable analysis confirmed greater mortality associated with health care-associated native valve endocarditis (incidence risk ratio, 1.28 [95% CI, 1.02 to 1.59]).Patients were treated at hospitals with cardiac surgery programs. The results may not be generalizable to patients receiving care in other types of facilities or to those with prosthetic valves or past injection drug use.More than one third of cases of native valve endocarditis in non-injection drug users involve contact with health care, and non-nosocomial infection is common, especially in the United States. Clinicians should recognize that outpatients with extensive out-of-hospital health care contacts who develop endocarditis have clinical characteristics and outcomes similar to those of patients with nosocomial infection.None.
|
|
| 23. |
- Bidartondo, Martin, et al.
(författare)
-
Preserving accuracy in GenBank
- 2008
-
Ingår i: Science. ; 319:5870
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 24. |
- Charbonnier, FC, et al.
(författare)
-
The 5 ' Region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences
- 2005
-
Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 26:3, s. 255-261
-
Tidskriftsartikel (refereegranskat)abstract
- MSH2 rearrangements are involved in approximately 10% of hereditary non,polyposis colorectal cancer (HNPCC) families, and in most of the rearrangements, exon I is deleted. We scanned by quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) 200 kb of genomic sequences upstream of the MSH2 transcription initiation site in 21 HNPCC families with exon I deletions. This QMPSF scan revealed 12 distinct 5' breakpoints located up to 200 kb upstream of the MSH2 transcription initiation site. Sequencing analysis of the rearranged allele in 17 families revealed that most of the deletions (15/17) resulted from homologous Alu-mediated recombination. QMPSF and sequencing analysis in these 21 families led us to detect the presence of 20 distinct 5' breakpoints. In 14 out of 15 Alu-mediated recombinations, we found, either within the identical region in which the recombination had probably occurred or in its vicinity, the 26,bp Alu core sequence containing the recombinogenic Chi-like motif. Compared to the equivalent regions of other human genes, the MSH2 upstream region was found to contain a high density of Alu repeats (30% within 228 kb and 43% within 50 kb), most of which belong to the old Alu S subfamilies. In conclusion, this study demonstrates the heterogeneity of the breakpoints within the MSH2 upstream region and reveals the remarkable density of recombinogenic Alu sequences in this region.
|
|
| 25. |
|
|
| 26. |
|
|
| 27. |
|
|
| 28. |
|
|
| 29. |
- DeHenauw, Stefaan, et al.
(författare)
-
Nutritional status and lifestyle of adolescents from a public health perspective. The HELENA Project - Healthy Lifestyle in Europe by Nutrition in Adolescence.
- 2007
-
Ingår i: Journal of Public Health. ; 15:3, s. 187-197
-
Tidskriftsartikel (refereegranskat)abstract
- The HELENA Project—Healthy Lifestyle in Europe by Nutrition in Adolescence—is a European, collaborative research project financed by the EU Sixth Framework Programme in the area of nutrition-related adolescent health. The basic objective of the HELENA project is to obtain reliable and comparable data from a random sample of European adolescents (boys and girls aged 13–16 years) on a broad battery of relevant nutrition and health-related parameters: dietary intake, food choices and preferences, anthropometry, serum indicators of lipid metabolism and glucose metabolism, vitamin and mineral status, immunological markers, physical activity, fitness and genetic markers. The HELENA project is conceived as a scientific construction with four complementary sub-studies that are elaborated through 14 well-defined work packages. Sub-studies are focused, respectively, on “a cross-sectional description of lifestyles and indicators of nutritional status (HELENA-CSS)”, “a lifestyle education intervention programme (HELENA-LSEI), “a metabolic study with cross-over design (HELENA-COMS)” and a “study on behaviour, food preferences and food development” (HELENA-BEFO). The project unites 20 research centres from 10 European countries. In addition, the consortium comprises five SMEs (small and medium-sized enterprises) that are actively involved in the research activities. The core of the HELENA project study material is an overall European cohort of 3,000 adolescents, equally recruited in ten cities from nine countries. Standardization of methods among partners is a key issue in the project and is obtained through the development of standard protocols, training sessions, validation sub-studies and pilot projects. Health-related problems have a tendency to evolve in cycles, with ever new problems emerging in ever new contexts that call for appropriate and tailored actions. The HELENA project is expected to offer essential elements for use in the overall machinery of required public health nutrition cycles. It is of the greatest importance for its results to prove useful that it can communicate with other initiatives on the level of science and society.
|
|
| 30. |
- Dolev, Shlomi, et al.
(författare)
-
Autonomous virtual mobile nodes.
- 2005
-
Ingår i: SPAA / Phillip B. Gibbons, Paul G. Spirakis. - 1581139861 ; , s. 215-, s. 62-69
-
Tidskriftsartikel (refereegranskat)
|
|
| 31. |
|
|
| 32. |
- Goldstein, Larry B., et al.
(författare)
-
Relative effects of statin therapy on stroke and cardiovascular events in men and women : secondary analysis of the Stroke Prevention by Aggressive Reduction in Cholesterol Levels (SPARCL) Study
- 2008
-
Ingår i: Stroke. - 0039-2499 .- 1524-4628. ; 39:9, s. 2444-8
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND PURPOSE: In SPARCL, treatment with atorvastatin 80 mg daily reduced stroke risk in patients with recent stroke or TIA and no known coronary heart disease by 16% versus placebo over 4.9 years of follow-up. The purpose of this secondary analysis was to determine whether men and women similarly benefited from randomization to statin treatment. METHODS: The effect of sex on treatment-related reductions in stroke and other cardiovascular outcomes were analyzed with Cox regression modeling testing for sex by treatment interactions. RESULTS: Women (n=1908) constituted 40% of the SPARCL study population. At baseline, men (n=2823) were younger (62.0+/-0.21 versus 63.9+/-0.27 years), had lower systolic BPs (138.1+/-0.35 versus 139.5+/-0.47 mm Hg), higher diastolic BPs (82.2+/-0.20 versus 81.0+/-0.25 mm Hg), more frequently had a history of smoking (73% versus 38%), and had lower total cholesterol (207.0+/-0.54 versus 218.9+/-0.67 mg/dL) and LDL-C levels (132+/-0.45 versus 134+/-0.57 mg/dL) than women. Use of antithrombotics and antihypertensives were similar. After prespecified adjustment for region, entry event, time since event, and age, there were no sex by treatment interactions for the combined risk of nonfatal and fatal stroke (treatment Hazard Ratio, HR=0.84, 95% CI 0.68, 1.02 in men versus HR=0.84, 95% CI 0.63, 1.11 in women; treatment x sex interaction P=0.99), major cardiac events (HR=0.61, 95% CI 0.42, 0.87 in men versus HR=0.76, 95% CI 0.48, 1.21 in women; P=0.45), major cardiovascular events (HR=0.78, 95% CI 0.65, 0.93 in men versus HR=0.84, 95% CI 0.65, 1.07 in women; P=0.63), revascularization procedures (HR=0.50, 95% CI 0.37, 0.67 in men versus HR=0.76, 95% CI 0.46, 1.24 in women; P=0.17), or any CHD event (HR=0.54, 95% CI 0.41, 0.72 in men versus 0.67 95% CI 0.46, 0.98 in women; P=0.40). CONCLUSIONS: Stroke and other cardiovascular events are similarly reduced with atorvastatin 80 mg/d in men and women with recent stroke or TIA.
|
|
| 33. |
- Hill, Deirdre A., et al.
(författare)
-
Breast cancer risk following radiotherapy for Hodgkin lymphoma : modification by other risk factors
- 2005
-
Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 106:10, s. 3358-65
-
Tidskriftsartikel (refereegranskat)abstract
- The importance of genetic and other risk factors in the development of breast cancer after radiotherapy (RT) for Hodgkin lymphoma (HL) has not been determined. We analyzed data from a breast cancer case-control study (105 patients, 266 control subjects) conducted among 3 817 survivors of HL diagnosed at age 30 years or younger in 6 population-based cancer registries. Odds ratios (ORs) and excess relative risks (ERRs) were calculated using conditional regression. Women who received RT exposure (> or = 5 Gy radiation dose to the breast) had a 2.7-fold increased breast cancer risk (95% confidence interval (CI) 1.4-5.2), compared with those given less than 5 Gy. RT exposure (> or = 5 Gy) was associated with an OR of 0.8 (95% CI, 0.2-3.4) among women with a first- or second-degree family history of breast or ovarian cancer, and 5.8 (95% CI, 2.1-16.3) among all other women (interaction P = .03). History of a live birth appeared to increase the breast cancer risk associated with RT among women not treated with ovarian-damaging therapies. Breast cancer risk following RT varied little according to other factors. The additional increased relative risk of breast cancer after RT for HL is unlikely to be larger among women with a family history of breast or ovarian cancer than among other women.
|
|
| 34. |
- Kourany, Wissam M, et al.
(författare)
-
Influence of diabetes mellitus on the clinical manifestations and prognosis of infective endocarditis: a report from the International Collaboration on Endocarditis-Merged Database.
- 2006
-
Ingår i: Scandinavian journal of infectious diseases. - : Informa UK Limited. - 0036-5548 .- 1651-1980. ; 38:8, s. 613-9
-
Tidskriftsartikel (refereegranskat)abstract
- The purpose of this investigation was to study the influence of diabetes mellitus (DM) on outcomes of infective endocarditis (IE). Outcomes were compared between 150 diabetic and 905 non-diabetic patients with IE from the International Collaboration on Endocarditis Merged Database. Compared to non-diabetic patients, diabetic patients were older (median age 63 vs 57 y, p<0.001), were more often female (42.0% vs 31.9%, p=0.01), more often had comorbidities (41.5% vs 26.7%, p<0.001), and were more likely to be dialysis dependent (12.7% vs 4.0%, p<0.001). S. aureus was isolated more often (30.7% vs 21.7%, p=0.02), and microorganisms from the viridans Streptococcus group less often (16.7% vs 28.2%, p = 0.001) in the diabetic group. There was no difference with respect to the presence of congestive heart failure, embolism, intra-cardiac abscess, new valvular regurgitation, or valvular vegetation. Diabetic patients underwent surgical intervention less frequently (32.0% vs 44.9%, p = 0.003), and had higher overall in-hospital mortality (30.3% vs 18.6%, p = 0.001). On multivariable analysis, DM was an independent predictor of mortality (odds ratio (OR) = 1.71, 95% confidence interval (CI) 1.08-2.70), especially in male patients, as diabetic males had higher mortality than non-diabetic males (OR 2.18, CI 1.08-4.35). DM is an independent predictor of in-hospital mortality among patients hospitalized with IE.
|
|
| 35. |
|
|
| 36. |
|
|
| 37. |
- RODENSTEIN, DANIEL, et al.
(författare)
-
Driving in Europe: the need of a common policy for drivers with obstructive sleep apnoea syndrome
- 2008
-
Ingår i: Journal of sleep research. - : Wiley. - 1365-2869 .- 0962-1105. ; 17:3, s. 281-284
-
Tidskriftsartikel (refereegranskat)abstract
- Obstructive sleep apnoea syndrome (OSA) increases the risk of motor vehicle crashes, and of all medical disorders, has greatest risk in this respect. There is no consistency in the way OSA is considered by the national 'Physical Fitness to Drive' legislations within the 27 member countries of the European Union (EU), and most ignore OSA. This is further reflected by the absence of any reference to OSA in Annex III of the Directive 91/439/EEC, harmonizing Driving License regulations in the EU. A recent meeting brought together experts from several European and other countries, together with a representative of the European Commission. They discussed the best way to design and implement a uniform policy within Europe, for OSA and driving. It was agreed that: (i) other forms of pathological sleepiness be included, (ii) it covers both private and professional drivers, (iii) police accident report forms should explicitly consider sleepiness as a potential cause, (iv) sleep-wake education should be incorporated into the mandatory program of continuous education for professional drivers, ideally from 2010, (v) driver screening methods should contain questions on sleepiness at the wheel, habitual snoring and witnessed apneas during sleep, as well as the Epworth Sleepiness Score and Body Mass Index and (vi) following effective and efficient treatment, patients should be permitted to drive. In the light of medical, scientific and technical progress, EU procedures exist to enable the rapid modification of existing legislation. If such a procedure could be enacted for these aspects of driver sleepiness, then roads would be safer for 400 million people.
|
|
| 38. |
|
|
| 39. |
|
|
| 40. |
|
|
| 41. |
- Travis, Lois B., et al.
(författare)
-
Cumulative absolute breast cancer risk for young women treated for Hodgkin lymphoma
- 2005
-
Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 97:19, s. 1428-37
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Many women develop breast cancer after treatment for Hodgkin lymphoma (HL) at a young age. We estimated this future risk, taking into account age and calendar year of HL diagnosis, HL treatment information, population breast cancer incidence rates, and competing causes of death. METHODS: Relative risks of breast cancer for categories defined by radiation dose to the chest (0, 20- < 40 Gy, or > or = 40 Gy) and use of alkylating agents (yes or no) were estimated from a case-control study conducted within an international population-based cohort of 3817 female 1-year survivors of HL diagnosed at age 30 years or younger from January 1, 1965, through December 31, 1994. To compute cumulative absolute risks of breast cancer, we used modified standardized incidence ratios to relate cohort breast cancer risks to those in the general population, enabling application of population-based breast cancer rates, and we allowed for competing risks by using population-based mortality rates in female HL survivors. RESULTS: Cumulative absolute risks of breast cancer increased with age at end of follow-up, time since HL diagnosis, and radiation dose. For an HL survivor who was treated at age 25 years with a chest radiation dose of at least 40 Gy without alkylating agents, estimated cumulative absolute risks of breast cancer by age 35, 45, and 55 years were 1.4% (95% confidence interval [CI] = 0.9% to 2.1%), 11.1% (95% CI = 7.4% to 16.3%), and 29.0% (95% CI = 20.2% to 40.1%), respectively. Cumulative absolute risks were lower in women treated with alkylating agents. CONCLUSIONS: Breast cancer projections varied considerably by type of HL therapy, time since HL diagnosis, and age at end of follow-up. These estimates are applicable to HL survivors treated with regimens of the past and can be used to counsel such patients and plan management and preventive strategies. Projections should be used with caution, however, in patients treated with more recent approaches, including limited-field radiotherapy and/or ovary-sparing chemotherapy.
|
|
| 42. |
|
|
| 43. |
|
|
